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https://www.readbyqxmd.com/read/28918451/quantitative-18-f-dopa-pet-ct-in-pheochromocytoma-the-relationship-between-tumor-secretion-and-its-biochemical-phenotype
#1
Vincent Amodru, Carole Guerin, Sarkis Delcourt, Pauline Romanet, Anderson Loundou, Bruna Viana, Thierry Brue, Frédéric Castinetti, Frédéric Sebag, Karel Pacak, David Taïeb
INTRODUCTION: (18)F-FDOPA illustrates the properties of uptake and storage of catecholamines in pheochromocytomas (PHEOs). Until now, the relationship between (18)F-FDOPA quantitative parameters and a PHEO secretory profile has not been specifically evaluated. MATERIALS AND METHODS: Fifty-six patients (56% females, median age: 47.5 yrs) with non-metastatic PHEO, evaluated by (18)F-FDOPA PET/CT, were included in this retrospective study. Forty-five patients had negative genetic testing (80...
September 16, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28905789/re-inactivation-of-the-pbrm1-tumor-suppressor-gene-amplifies-the-hif-response-in-vhl-clear-cell-renal-carcinoma
#2
Anthony Atala
No abstract text is available yet for this article.
October 2017: Journal of Urology
https://www.readbyqxmd.com/read/28893800/vhl-deficiency-drives-enhancer-activation-of-oncogenes-in-clear-cell-renal-cell-carcinoma
#3
Xiaosai Yao, Jing Tan, Kevin Junliang Lim, Joanna Koh, Wen Fong Ooi, Zhimei Li, Dachuan Huang, Manjie Xing, Yang Sun Chan, James Zhengzhong Qu, Su Ting Tay, Giovani Wijaya, Yue Ning Lam, Jing Han Hong, Ai Ping Lee-Lim, Peiyong Guan, Michelle Shu Wen Ng, Cassandra Zhengxuan He, Joyce Suling Lin, Tannistha Nandi, Aditi Qamra, Chang Xu, Swe Swe Myint, James O J Davies, Jian Yuan Goh, Gary Loh, Bryan C Tan, Steven G Rozen, Qiang Yu, Iain Bee Huat Tan, Christopher Wai Sam Cheng, Shang Li, Kenneth Tou En Chang, Puay Hoon Tan, David Lawrence Silver, Alexander Lezhava, Gertrud Steger, Jim R Hughes, Bin Tean Teh, Patrick Tan
Protein-coding mutations in clear cell renal cell carcinoma (ccRCC) have been extensively characterized, frequently involving inactivation of the von Hippel Lindau (VHL) tumor suppressor. Roles for non-coding cis-regulatory aberrations in ccRCC tumorigenesis, however, remain unclear. Analyzing 10 primary tumor/normal pairs and 9 cell lines across 79 chromatin profiles, we observed pervasive enhancer malfunction in ccRCC, with cognate enhancer-target genes associated with tissue-specific aspects of malignancy...
September 11, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28890865/functional-imaging-of-paragangliomas-with-an-emphasis-on-von-hippel-lindau-associated-disease-a-mini-review
#4
REVIEW
Ioannis Ilias, Georgios Meristoudis
Few reports have presented data and results on functional (i.e., nuclear medicine) imaging of paragangliomas and pheochromocytomas (PGLs/PHEOs) for von Hippel-Lindau (VHL) patients. Nuclear medicine localization modalities for chromaffin tumors can be specific or nonspecific. Specific methods make use of the expression of the human norepinephrine transporter (hNET) and vesicular monoamine transporters (VMATs) by these tumors. These permit the use of radiolabeled ligands that enter the synthesis and storage pathway of catecholamines...
2017: Journal of Kidney Cancer and VHL
https://www.readbyqxmd.com/read/28875972/-gastroenterological-manifestations-of-von-hippel-lindau-disease-a-case-report
#5
Joanna Koniusz, Krzysztof Dąbkowski, Katarzyna Buczek, Aleksandra Gomółka, Teresa Starzyńska
Gastrointestinal organs are involved in the course of von Hippel Lindau disease. Typically pancreas in von Hippel Lindau syndrome is a site of cystic and solid tumors. Differential diagnosis of pancreatic lesions includes benign lesions (cysts, serous cystic adenomas), potentially malignant (neuroendocrine) and malignant tumors(metastases).In this work we present a patient with VHL syndrome with pancreatic cysts and neuroendocrine tumor.
August 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28875969/-gastroenterological-manifestations-of-von-hippel-lindau-disease
#6
EDITORIAL
Joanna Koniusz, Krzysztof Dąbkowski, Katarzyna Buczek, Aleksandra Gomółka, Teresa Starzyńska
Von Hippel-Lindau disease is rare autosomal dominant disorder that results from mutation of VHL gene. Typical manifestations of this syndrome include haemangioblastomas of retina, cerebellum and spinal cord, endolymphatic sac tumors, clear cell cancer and kidney cysts, pheochromocytoma, pancreatic cysts and neuroendocrine tumors. The differential diagnosis of pancreatic lesions in patients with von Hippel Lindau syndrome plays an important role. The pancreas in VHL disease is not only site of benign lesions (cysts, serous systic adenomas) but also of potentially malignant (neuroendocrine) and malignant tumors(metastases)...
August 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28874972/microsurgical-treatment-of-sporadic-and-von-hippel-lindau-disease-associated-spinal-hemangioblastomas-a-single-institution-experience
#7
Joe M Das, Krishnakumar Kesavapisharady, Saravanan Sadasivam, Suresh Narayanan Nair
STUDY DESIGN: Retrospective cohort study. PURPOSE: To examine the clinical profile and surgical complications in patients with spinal hemangioblastomas and to evaluate the long-term outcome in them. OVERVIEW OF LITERATURE: Although considered to be histologically benign, hemangioblastomas may cause significant neurological deficits. The proportion of spinal hemangioblastomas associated with von Hippel-Lindau (VHL) disease has been estimated be 13%-59%...
August 2017: Asian Spine Journal
https://www.readbyqxmd.com/read/28868236/management-strategies-and-outcomes-for-vhl-related-craniospinal-hemangioblastomas
#8
REVIEW
Christ Ordookhanian, Paul E Kaloostian, Samer S Ghostine, Philippe E Spiess, Arnold B Etame
Hemangioblastomas are rare and benign tumors accounting for less than 2% of all central nervous system (CNS) tumors. The vast majority of hemangioblastomas occur sporadically, whereas a small number of cases, especially in younger patients, are associated with Von Hippel-Lindau (VHL) syndrome. It is thought that loss of tumor suppressor function of the VHL gene results in stabilization of hypoxia-inducible factor alpha with downstream activation of cellular proliferative and angiogenic genes that promote tumorigenesis...
2017: Journal of Kidney Cancer and VHL
https://www.readbyqxmd.com/read/28866246/radiofrequency-ablation-for-renal-cancer-in-von-hippel-lindau-syndrome-patients-a-prospective-cohort-analysis
#9
Marco Allasia, Francesco Soria, Antonino Battaglia, Carlo Gazzera, Marco Calandri, Mirko Parasiliti Caprino, Barbara Lucatello, Andrea Velrti, Mario Maccario, Barbara Pasini, Andrea Bosio, Paolo Gontero, Paolo Destefanis
INTRODUCTION: Management of renal-cell carcinoma (RCC) in patients with Von Hippel-Lindau syndrome (VHL) represents a clinical dilemma: the oncologic outcomes must be weighed against preservation of renal function. Radiofrequency ablation (RFA) is currently used in selected cases for treatment of small-size RCC. The aim of this study was to evaluate the safety, complications, and functional and oncologic outcomes of RFA in the treatment of RCC in VHL patients. PATIENTS AND METHODS: RCCs were treated with ultrasound-guided RFA or with laparoscopic RFA...
August 10, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28861890/high-grade-renal-cell-carcinoma-with-emperipolesis-clinicopathological-immunohistochemical-and-molecular-genetic-analysis-of-14-cases
#10
Pavla Rotterova, Petr Martinek, Reza Alaghehbandan, Kristyna Prochazkova, Ivan Damjanov, Joanna Rogala, Saul Suster, Delia Perez-Montiel, Isabel Alvarado-Cabrero, Maris Sperga, Marian Svajdler, Kvetoslava Michalova, Kristyna Pivovarcikova, Ondrej Daum, Milan Hora, Martin Dusek, Ondrej Ondic, Adela Stehlikova, Michal Michal, Ondrej Hes
Emperipolesis has recently been described as a constant feature of "biphasic squamoid" papillary renal cell carcinoma (BPRCC). We also noticed this in some high-grade (HG) RCC, which promoted the present study to estimate the incidence of emperipolesis in RCCs and to describe them in further detail. 14 cases of HGRCC showing emperipolesis were retrieved from our registry. Microscopic examination of filed slides was supplemented with immunohistochemical and molecular-genetic analyses using paraffin embedded tissue...
September 1, 2017: Histology and Histopathology
https://www.readbyqxmd.com/read/28853884/group-based-optimization-of-potent-and-cell-active-inhibitors-of-the-von-hippel-lindau-vhl-e3-ubiquitin-ligase-structure-activity-relationships-leading-to-the-chemical-probe-2s-4r-1-s-2-1-cyanocyclopropanecarboxamido-3-3-dimethylbutanoyl-4-hydroxy-n-4-4-methylthiazol
#11
Pedro Soares, Morgan S Gadd, Julianty Frost, Carles Galdeano, Lucy C J Ellis, Ola Epemolu, Sonia Rocha, Kevin D Read, Alessio Ciulli
The von Hippel-Lindau tumor suppressor protein is the substrate binding subunit of the VHL E3 ubiquitin ligase, which targets hydroxylated α subunit of hypoxia inducible factors (HIFs) for ubiquitination and subsequent proteasomal degradation. VHL is a potential target for treating anemia and ischemic diseases, motivating the development of inhibitors of the VHL:HIF-α protein-protein interaction. Additionally, bifunctional proteolysis targeting chimeras (PROTACs) containing a VHL ligand can hijack the E3 ligase activity to induce degradation of target proteins...
August 30, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28853079/specific-localization-of-missense-mutations-in-the-vhl-gene-in-clear-cell-renal-cell-carcinoma
#12
D S Mikhailenko, T A Zhinzhilo, A V Kolpakov, T V Kekeeva, V V Strel'nikov, M V Nemtsova, N E Kushlinskii
Missense mutations in the VHL gene during sporadic clear cell renal cell carcinoma were studied to evaluate their localization in relation to functionally important motifs of the VHL protein. Somatic mutations were identified in 124 of 307 samples. All missense mutations in the α-domain were localized in the binding site for elongin C. Substitutions in the β-domain (77%) were found in the HIF-binding site. Five missense mutations were absent in these sites, which illustrates their role in VHL protein formation or suppressor function of other protein cofactors...
August 29, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28840067/surgical-treatment-of-cerebellar-hemangioblastomas
#13
A Cervio, J F Villalonga, R Mormandi, S Condomí Alcorta, G Sevlever, J Salvat
BACKGROUND: Hemangioblastomas (HBL) are uncommon tumors of the central nervous system (CNS), corresponding to 1-2.5% of all intracranial tumors. They can present sporadically or in patients with von Hippel-Lindau (VHL) disease and are most often located in the cerebellum, brainstem, and spinal cord. VHL disease is a multiple neoplasia syndrome inherited in an autosomal dominant fashion and caused by a VHL suppressor gene deletion. We present our experience in the management of patients with cerebellar HBL...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28838111/functional-outcome-after-resection-of-von-hippel-lindau-disease-associated-cauda-equina-hemangioblastomas-an-observational-cohort-study
#14
Gautam U Mehta, Blake K Montgomery, Dominic M Maggio, Prashant Chittiboina, Edward H Oldfield, Russell R Lonser
BACKGROUND: Cauda equina hemangioblastomas in von Hippel-Lindau (VHL) disease can cause significant neurological signs and symptoms. Despite their associated morbidity, the management of these tumors remains incompletely defined. OBJECTIVE: To determine optimal management, we analyzed the functional outcomes after resection of these tumors. METHODS: VHL patients who underwent surgical resection of cauda equina hemangioblastomas at the National Institutes of Health and the University of Virginia were included...
August 1, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28819189/vascular-hysteresis-loops-and-vascular-architecture-mapping-in-patients-with-glioblastoma-treated-with-antiangiogenic-therapy
#15
Andreas Stadlbauer, Max Zimmermann, Stefan Oberndorfer, Arnd Doerfler, Michael Buchfelder, Gertraud Heinz, Karl Roessler
In this study, we investigated the variability of vascular hysteresis loop (VHL) shapes and the spatial heterogeneity of neovascularization and microvascular alterations using vascular architecture mapping (VAM) in patients with recurrent glioblastoma during bevacizumab mono-therapy. VAM data were acquired in 13 patients suffering from recurrent glioblastoma prior to and 3 months after bevacizumab treatment onset using a dual contrast agent injections approach as part of routine MRI. Two patients were additionally examined after the first cycle of bevacizumab to check for early treatment response...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814529/selective-hif-1-regulation-under-nonhypoxic-conditions-by-the-p42-p44-map-kinase-inhibitor-pd184161
#16
Maroua Jalouli, Sophie Mokas, Catherine A Turgeon, Laurent Lamalice, Darren E Richard
Hypoxia-inducible factor-1 (HIF-1) is a key gene regulator for cellular adaptation to low oxygen. In addition to hypoxia, several nonhypoxic stimuli, including hormones and growth factors, are an essential part for cell-specific HIF-1 regulation. Our studies have highlighted angiotensin II (AngII), a vasoactive hormone, as a potent HIF-1 activator in vascular smooth muscle cells (VSMC). AngII increases HIF-1 transcriptional activity by modulating specific signaling pathways. In VSMC, p42/p44 mitogen-activated protein kinase (MAPK) pathway activation is essential for HIF-1-mediated transcription during AngII treatment...
August 16, 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28812986/epigenome-aberrations-emerging-driving-factors-of-the-clear-cell-renal-cell-carcinoma
#17
REVIEW
Ali Mehdi, Yasser Riazalhosseini
Clear cell renal cell carcinoma (ccRCC), the most common form of Kidney cancer, is characterized by frequent mutations of the von Hippel-Lindau (VHL) tumor suppressor gene in ~85% of sporadic cases. Loss of pVHL function affects multiple cellular processes, among which the activation of hypoxia inducible factor (HIF) pathway is the best-known function. Constitutive activation of HIF signaling in turn activates hundreds of genes involved in numerous oncogenic pathways, which contribute to the development or progression of ccRCC...
August 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28806730/a-systems-approach-reveals-distinct-metabolic-strategies-among-the-nci-60-cancer-cell-lines
#18
Maike K Aurich, Ronan M T Fleming, Ines Thiele
The metabolic phenotype of cancer cells is reflected by the metabolites they consume and by the byproducts they release. Here, we use quantitative, extracellular metabolomic data of the NCI-60 panel and a novel computational method to generate 120 condition-specific cancer cell line metabolic models. These condition-specific cancer models used distinct metabolic strategies to generate energy and cofactors. The analysis of the models' capability to deal with environmental perturbations revealed three oxotypes, differing in the range of allowable oxygen uptake rates...
August 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28803235/18f-fdg-uptake-in-well-differentiated-neuroendocrine-tumors-correlates-with-both-ki-67-and-vhl-pathway-inactivation
#19
Margot Bucau, Astrid Laurent-Bellue, Nicolas Poté, Olivia Hentic, Jérôme Cros, Nidaa Mikail, Vinciane Rebours, Philippe Ruszniewski, Rachida Lebtahi, Anne Couvelard
<br>Introduction: 18FDG PET-scanner positivity correlates with poor prognosis in neuroendocrine neoplasms (NEN). Glucose transporter 1 (GLUT1) and carbonic anhydrase 9 (CA9) are markers of agressivity in tumors. Together with pVHL, they are involved in tumor cell metabolism via the hypoxia-inducible factor (HIF) signaling pathway. The aim of this study was to compare, in a series of well-differentiated neuroendocrine tumors (NET), the 18-FDG uptake and expression of proliferation marker Ki-67, GLUT-1, CA9 and pVHL...
August 11, 2017: Neuroendocrinology
https://www.readbyqxmd.com/read/28794363/renal-cell-carcinoma-and-a-pancreatic-neuroendocrine-tumor-a-coincidence-or-instance-of-von-hippel-lindau-disease
#20
Hiroyuki Matsubayashi, Masashi Niwakawa, Katsuhiko Uesaka, Keiko Sasaki, Yoshimi Kiyozumi, Hirotoshi Ishiwatari, Kinichi Hotta, Kenichiro Imai, Sayo Ito, Kohei Takizawa, Masaki Tanaka, Noboru Kawata, Naomi Kakushima, Hiroyuki Ono
We herein report a rare case of a 79-year-old man who presented with the simultaneous occurrence of pancreatic neuroendocrine tumors (PNET) and renal cell carcinomas (RCC), without any other Von Hippel-Lindau (VHL)-associated lesions or any pertinent family history. Computed tomography showed vascular-rich solid lesions in the left kidney and the pancreatic tail, measuring 72 mm and 15 mm in size, respectively. Preoperatively, RCC with pancreatic metastasis was suspected and laparotomy was performed. However, the resected specimens revealed a different tumor histology, namely renal clear cell carcinoma (G2, pT3) and PNET (G1, pT3)...
August 10, 2017: Internal Medicine
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